Rett Syndrome Severity: A New Insight

May 4th, 2009 - 11:06 pm ICT by GD  

A genetic deviation that can potentially influence the severe symptoms in Rett syndrome has been identified by a research alliance between Israel and Australia.

Dr Helen Leonard, the head of the Rett Syndrome Study in Australia at the Telethon Institute for Child Health Research, said that the discovery was stirring because it has helped to identify a probable new objective for the cure of the incapacitating and devastating neurological disorder. Dr Leonard said, “We know that there is a wide range in the onset and severity of symptoms in patients with Rett syndrome but it has been difficult to give families a firm idea of how the disorder would progress… This information is potentially helpful in predicting the clinical progression, but importantly, gives us another area to explore for potential therapies.”

DNA samples and all necessary clinical information were collected from 125 patients in the Australian Rett Syndrome Database. An Israeli Research team was part of the research. This team was coordinated by Dr Bruria Ben Zeev at the Safra Pediatric Hospital, Sheba Medical Centre, Sackler School of Medicine, Tel Aviv. Professor John Christodoulou, of the NSW Centre for Rett Syndrome Research at the Children’s Hospital in Sydney and Dr Eva Gak of the Sagol Neuroscience Center at the Sheba Medical Centre undertook to do the genetic testing.

Professor Christodoulou said that the new discovery has established a connection between the extent of the clinical symptoms of RETT and a common brain-derived neurotrophic factor (BDNF) polymorphism.

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